The chromosomes on a normal person are 23 pairs and the sex chromosomes. For males it is XY for sex chromosomes and females is XX. If a person has Fragile X Syndrome the X chromosome has a little bend on the end of the chromosome. In order for someone to get Fragile X Syndrome, one of their parents must either be a carrier or have the disease. It is more likely in males because they only have one X and one chance. Females have 2 X's so they are less likely to get Fragile X Syndrome. Impairment from Fragile X Syndrome can be learning disabilities or it can lead to autistic like behaviors. There can be severe cases and there are some cases that are not so severe. It usually affects males more often. It impairs memory, tremors, and balance. This genetic disorder and be passed on to offspring even if there isn't a sign of it in both parents. Some families can have a first person to be diagnosed and others may have the genetic disorder already in their family. The most common cause of mental retardation is known as Fragile X Syndrome. The FXS is something that shuts down the gene that makes the brain function normally. That is why people that have fragile X Syndrome are mentally retarded. The exact definition of Fragile X Syndrome is, "the inherited presence of a mutated gene on the X chromosome, which results in production of too little of a particular protein in the body.

Some of the symptoms of Fragile X Syndrome in males is large ears, flexible joints, low muscle tone, broad forehead, flat feet and soft, fleshy skin. "In our sample of 75 parents of young boys with fragile X syndrome, typically someone first becomes concerned about the child around 8-10 months of age. Typical concerns voiced are inability to cuddle, lack of regular routines, fussiness or delayed attainment of developmental milestones (walking, talking). Sometimes these signs are subtle, and it may take a long time for a physician or other professional to acknowledge that a problem exists."...

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...December 2, 2013
Script for FragileX Presentation
Slide 1.
FRAGILEXSYNDROME
Slide 2.
FragileXsyndrome (FXS) is a genetic disorder and the leading cause of inherited mental retardation. Children with this syndrome often have significant delays in learning, autistic-like behavior, hyperactivity, and a distinctive physical appearance
Slide 3.
The term “fragileX” comes from the finding that the X chromosomes of affected individuals have a fragile site that causes the chromosome to break under certain test conditions.
Slide 4.
FMR-1
The gene causing fragileX, FMR-1, is located on the X chromosome at the so-called “fragile” site that gives the syndrome its name. The protein it produces is believed to play a role in brain development. The FMR-1 gene was found to contain repeats of a particular 3-base CGG sequence. When the length of this repeat becomes too long it causes FragileXsyndrome.
Slide 5.
THERE IS NO CURE FOR FRAGILEXSYNDROME
Slide 6.
It is more common and severe in boys than girls
Boys and girls can both be affected, but because boys have only one X chromosome, a single...

...FragileXsyndrome, also called Martin-Bell syndrome, is a syndrome of X-linked
mental retardation. In 1943, Martine and Bell described a pedigree of X-linked
mental disability. Chris and Weesam were first to sight an unusual “maker X
chromosome” with mental disability in 1969. It is also the most common known
cause of autism. Autism is a brain development disorder that impairs social
interaction and communication. It can also cause restricted and repetitive
behavior. It all starts before a child is three years old. It affects about 1
in 4000 males and 1 in 8000 females. It can cause a range of mental impairment,
varying from mild to severe, and can also cause many other typical features and
symptoms.
The cause of fragileXsyndrome is by mutation of a gene on the X-
chromosome. The gene makes a protein needed for brain development, but the
mutation causes a person to make less or none of the protein, which cause
fragileXsyndrome. That gene is called FMR1. FMR1 stands for fragileX mental
retardation 1, which is a human gene that provides instructions to make a
protein. The gene can be passed silently without any symptoms showing for
generation before a child is affected by fragile...

...FragileXSyndrome is the most common inherited cause of learning disorders, as it affects the brain, the center of all the body’s activity. The sufferers are mentally impaired in usually a couple ways. FragileXSyndrome affects the growth of the brain.
The defect, FragileXSyndrome or FRAXA was discovered by three doctors, Ben Oostra, David Nelson, and Stephen Warren. They were the men to discover the background of the gene and how it was mutated. FragileXSyndrome is a mutation on the X chromosome, so men are more susceptible to this disorder, though females are also in some slight danger. FragileXSyndrome can affect anyone with at least one X chromosome. FragileXSyndrome is also one of the most common of genetic disorders. FragileXsyndrome, also termed Martin-Bell syndrome or marker Xsyndrome, is the most common cause of inherited mental retardation and is the second most common cause of genetically associated mental deficiencies after Trisomy 21. In 1943, Martin and Bell investigated a family with multiple male members who had mental retardation. They were able to link the disorders to an...

...﻿FragileXSyndrome
Extra Credit Paper
4/30/14
Genetic mutations are usually associated to the X-men, however as medical technology grows we are learning that mutations don’t normally lead to super-powers, they almost always have the reverse affliction. A gene mutation is a permanent change in the DNA sequence, that make-up a gene. While some mutations have no effects in cognitive or physical growth and development,FragileXSyndrome does and not on a beneficial level.
The gene that is mutated has been identified as the FMR1 gene. A small gene code repeated on a fragile area of the X chromosome. The more the code is repeated the more likely it is to cause a problem in development. To understand why it may cause a problem we need to understand that the FMR1 gene helps make a protein that is detrimental for the brain to grow properly. FXS can cause a variety of developmental problems including learning disabilities and cognitive impairment. It has been linked as the most common genetic component of autism and intellectual disabilities.
So, who is commonly diagnosed with FXS? It can affect both boys and girls but because boys only have 1 X chromosome the condition will impact their development on a more serious level. It occurs in 1 of 4,000 boys and 1 in 8,000 girls, FXS can be inherited if linked to an X...

...Emmerich
Professor Debbie Seale
Biology 101
TR, 8:30-11:30 am
3/6/2012
Triple XSyndrome
Triple XSyndrome is a sex chromosome abnormality in which there are three X chromosomes instead of the usual two found in most females. Triple XSyndrome is also known as Trisomy X, Triplo XSyndrome, and XXX Syndrome. The first published report of a woman with a karyotype with a 47, XXX was by Patricia A. Jacobs in 1959 at a hospital in Scotland.
Most people have 46 chromosomes, occurring in 23 pairs. These chromosomes contain genes, which carry instructions that determine everything from your height to your eye color. One of these chromosome pairs determines your sex. You receive one sex chromosome from your mother and another from your father. Your mother can give you only an X chromosome, but your father can pass on an X or a Y chromosome. If you receive an X chromosome from your father, the XX pair makes you genetically a female. Females with Triple Xsyndrome have a third X chromosome. Triple Xsyndrome usually results from an error in the formation of a mother's egg cell or a father's sperm cell. Sometimes, triple Xsyndrome occurs as a result of an error early in the embryo's...

...Triple Xsyndrome, also known by alternative names such as Trisomy X or Triplo X, is a disorder within chromosomes. Our bodies are composed of millions of cells and each cell contains 46 chromosomes inside of its nuclei, which acts as the "brain" for the individual cell. Of these chromosomes there are typically 2 sex chromosomes, if you are female you will have two X chromosomes, and if you are male you will have oneX chromosome and one Y chromosome. When someone is diagnosed as having Triple Xsyndrome they have three X chromosomes, thus making it a disorder which effects females only.
Triple Xsyndrome is caused during the formation of reproductive cells (eggs and sperm) in one of the parents which is then passed down to their daughter. Research has discovered little about this disorder. Many girls and women who have the disorder may have no signs or symptoms. Symptoms that may be expressed include and may vary from, increased spacing between eyes, tall stature, a small head, delayed speech and language, delayed motor skills, seizures, delayed puberty, infertility, and rarely mental retardation. There is no cure for this disorder, and it is recommended to seek specialists in individual fields where the problem occurs, for example, see a speech and language pathologist if a delay in that area.
Triple...

...﻿Triple XSyndrome, also known as XXX Syndrome, is a genetic disorder affecting the sex chromosomes. Females generally posses two X chromosomes, one from each parents, but females affected by Triple Xsyndrome possess three X chromosomes. On average, Triple XSyndrome affects 1 in 1000 females. Triple Xsyndrome generally doesn’t occur due to inheritance, but is rather caused by an error in the formation of the gametes known as nondisjunction, resulting in the extra X chromosome. Another cause of Triple XSyndrome is an error in the development of the embryo.
Symptoms of Triple Xsyndrome vary from person to person. While some may show no visible signs or symptoms, others can be affected heavily. Typically, characteristics of Triple Xsyndrome fall into two main categories: physical and developmental. Females with Triple XSyndrome generally have taller statures as well as mild facial abnormalities such as skin folds covering the inner corners of the eyes, relatively smaller head size as well as weak muscle tone (hypotonia). Females with Triple Xsyndrome can also suffer from developmental issues, such as delayed motor, speech and language skills, as well as learning...

...clicked on the small, conveniently placed "X" in the corner of the window, I saw them. The words "rare genetic disease" and FragileX were strewn all over the porthole, which lead into a dreamland of information. A click away and I was on my way into Ms. Frizzle of the Magic School Bus's classroom, just waiting to be educated. (Of course, there are no Magic School Bus books written about FragileX, my newfound rare genetic disease friend.)
FragileXsyndrome affects one in four thousand males, and one in every eight thousand females around the globe. Its features include learning disability of varying severity, and behavioral problems such as hyperactivity and autistic tendencies. Fragile X's physical characteristics include a long face, protruding ears, lax joints, and in males: enlarged testes. There is no cure, but there is some evidence that treatment of the associated behavioral and educational problems can be beneficial.
FragileXsyndrome is caused by a mutation of the FMR-1 gene on the X chromosome (hence, fragileX"). Its connection to the X chromosome makes it sex-linked. The FMR-1 gene contains a sequence that consists of a variable number of repeats of the trinucleotide CGG, (representing cytosine and guanine). The sequence occurs in a...